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UniProtKB - O15550 (KDM6A_HUMAN)

Entry version 198 (10 Feb 2021)
Sequence version 2 (23 Sep 2008)
Previous versions | rss
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Protein

Lysine-specific demethylase 6A

Gene

KDM6A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).By similarity4 Publications

Miscellaneous

Escapes X chromosome inactivation.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1146Iron1 Publication1
Metal bindingi1148Iron1 Publication1
Metal bindingi1226Iron1 Publication1
Metal bindingi1331Zinc1 Publication1
Metal bindingi1334Zinc1 Publication1
Metal bindingi1358Zinc1 Publication1
Metal bindingi1361Zinc1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, Dioxygenase, Oxidoreductase
LigandIron, Metal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000147050-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15550

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214842, HDMs demethylate histones
R-HSA-5617472, Activation of anterior HOX genes in hindbrain development during early embryogenesis

SIGNOR Signaling Network Open Resource

More...SIGNORi		O15550

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysine-specific demethylase 6A (EC:1.14.11.684 Publications)
Alternative name(s):
Histone demethylase UTX
Ubiquitously-transcribed TPR protein on the X chromosome
Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein
[histone H3]-trimethyl-L-lysine(27) demethylase 6ACurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KDM6A
Synonyms:UTX
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12637, KDM6A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300128, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15550

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000147050.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Kabuki syndrome 2 (KABUK2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1146H → A: Abolishes histone demethylase activity. 3 Publications1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		7403

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		KDM6A

MalaCards human disease database

More...MalaCardsi		KDM6A
MIMi300867, phenotype

Open Targets

More...OpenTargetsi		ENSG00000147050

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2322, Kabuki syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37262

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15550, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2069164

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2684

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KDM6A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001064091 – 1401Lysine-specific demethylase 6AAdd BLAST1401

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei519Omega-N-methylarginineBy similarity1
Modified residuei549Omega-N-methylarginineBy similarity1
Modified residuei769PhosphoserineCombined sources1
Modified residuei827PhosphothreonineBy similarity1
Modified residuei829PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O15550

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O15550

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15550

MaxQB - The MaxQuant DataBase

More...MaxQBi		O15550

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15550

PeptideAtlas

More...PeptideAtlasi		O15550

PRoteomics IDEntifications database

More...PRIDEi		O15550

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48752

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15550

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O15550

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147050, Expressed in kidney and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15550, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15550, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147050, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TLE1 (By similarity).

Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A (or KDM6B), PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:17500065, PubMed:17713478).

Interacts with SUPT6H.

Interacts with SMARCA4 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113246, 62 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O15550

Database of interacting proteins

More...DIPi		DIP-46192N

Protein interaction database and analysis system

More...IntActi		O15550, 22 interactors

Molecular INTeraction database

More...MINTi		O15550

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367203

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O15550

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15550, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11401
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O15550

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati93 – 126TPR 1Add BLAST34
Repeati130 – 163TPR 2Add BLAST34
Repeati170 – 199TPR 3Add BLAST30
Repeati205 – 238TPR 4Add BLAST34
Repeati250 – 283TPR 5Add BLAST34
Repeati284 – 317TPR 6Add BLAST34
Repeati318 – 351TPR 7Add BLAST34
Repeati352 – 385TPR 8Add BLAST34
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1095 – 1258JmjCPROSITE-ProRule annotationAdd BLAST164

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 1095Interaction with SUPT6HBy similarityAdd BLAST1095

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi9 – 17Poly-Ala9

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UTX family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1124, Eukaryota
KOG1246, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155202

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15550

Database of Orthologous Groups

More...OrthoDBi		268901at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15550

TreeFam database of animal gene trees

More...TreeFami		TF317405

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.10, 2 hits

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00431

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003347, JmjC_dom
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02373, JmjC, 1 hit
PF13181, TPR_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00558, JmjC, 1 hit
SM00028, TPR, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48452, SSF48452, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51184, JMJC, 1 hit
PS50005, TPR, 7 hits
PS50293, TPR_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 16 potential isoforms that are computationally mapped.Show allAlign All

O15550-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG 
        60         70         80         90        100
GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG 
       110        120        130        140        150
HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI 
       160        170        180        190        200
KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC 
       210        220        230        240        250
TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG 
       260        270        280        290        300
WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV 
       310        320        330        340        350
QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG 
       360        370        380        390        400
HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAQ 
       410        420        430        440        450
LCNLPQGSLQ NKTKLLPSIE EAWSLPIPAE LTSRQGAMNT AQQNTSDNWS 
       460        470        480        490        500
GGHAVSHPPV QQQAHSWCLT PQKLQHLEQL RANRNNLNPA QKLMLEQLES 
       510        520        530        540        550
QFVLMQQHQM RPTGVAQVRS TGIPNGPTAD SSLPTNSVSG QQPQLALTRV 
       560        570        580        590        600
PSVSQPGVRP ACPGQPLANG PFSAGHVPCS TSRTLGSTDT ILIGNNHITG 
       610        620        630        640        650
SGSNGNVPYL QRNALTLPHN RTNLTSSAEE PWKNQLSNST QGLHKGQSSH 
       660        670        680        690        700
SAGPNGERPL SSTGPSQHLQ AAGSGIQNQN GHPTLPSNSV TQGAALNHLS 
       710        720        730        740        750
SHTATSGGQQ GITLTKESKP SGNILTVPET SRHTGETPNS TASVEGLPNH 
       760        770        780        790        800
VHQMTADAVC SPSHGDSKSP GLLSSDNPQL SALLMGKANN NVGTGTCDKV 
       810        820        830        840        850
NNIHPAVHTK TDNSVASSPS SAISTATPSP KSTEQTTTNS VTSLNSPHSG 
       860        870        880        890        900
LHTINGEGME ESQSPMKTDL LLVNHKPSPQ IIPSMSVSIY PSSAEVLKAC 
       910        920        930        940        950
RNLGKNGLSN SSILLDKCPP PRPPSSPYPP LPKDKLNPPT PSIYLENKRD 
       960        970        980        990       1000
AFFPPLHQFC TNPNNPVTVI RGLAGALKLD LGLFSTKTLV EANNEHMVEV 
      1010       1020       1030       1040       1050
RTQLLQPADE NWDPTGTKKI WHCESNRSHT TIAKYAQYQA SSFQESLREE 
      1060       1070       1080       1090       1100
NEKRSHHKDH SDSESTSSDN SGRRRKGPFK TIKFGTNIDL SDDKKWKLQL 
      1110       1120       1130       1140       1150
HELTKLPAFV RVVSAGNLLS HVGHTILGMN TVQLYMKVPG SRTPGHQENN 
      1160       1170       1180       1190       1200
NFCSVNINIG PGDCEWFVVP EGYWGVLNDF CEKNNLNFLM GSWWPNLEDL 
      1210       1220       1230       1240       1250
YEANVPVYRF IQRPGDLVWI NAGTVHWVQA IGWCNNIAWN VGPLTACQYK 
      1260       1270       1280       1290       1300
LAVERYEWNK LQSVKSIVPM VHLSWNMARN IKVSDPKLFE MIKYCLLRTL 
      1310       1320       1330       1340       1350
KQCQTLREAL IAAGKEIIWH GRTKEEPAHY CSICEVEVFD LLFVTNESNS 
      1360       1370       1380       1390       1400
RKTYIVHCQD CARKTSGNLE NFVVLEQYKM EDLMQVYDQF TLAPPLPSAS 

S
Length:1,401
Mass (Da):154,177
Last modified:September 23, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9DD7EA6C61E79229
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H5V6F5H5V6_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,322Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6S1F5H6S1_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X0R0A0A087X0R0_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,453Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W8R6F8W8R6_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,408Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFK0A0A6Q8PFK0_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,367Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHB6A0A6Q8PHB6_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,427Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFD0A0A6Q8PFD0_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PG32A0A6Q8PG32_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,355Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PG92A0A6Q8PG92_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,293Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGN0A0A6Q8PGN0_HUMAN
Lysine-specific demethylase 6A
KDM6A
1,336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti173L → V in AAC51839 (PubMed:9381176).Curated1
Sequence conflicti173L → V in AAC51840 (PubMed:9381176).Curated1
Sequence conflicti585L → R in AAC51839 (PubMed:9381176).Curated1
Sequence conflicti585L → R in AAC51840 (PubMed:9381176).Curated1
Sequence conflicti601S → N in AAC51839 (PubMed:9381176).Curated1
Sequence conflicti601S → N in AAC51840 (PubMed:9381176).Curated1
Sequence conflicti629E → K in AAC51839 (PubMed:9381176).Curated1
Sequence conflicti629E → K in AAC51840 (PubMed:9381176).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01449230A → T. Corresponds to variant dbSNP:rs6529EnsemblClinVar.1
Natural variantiVAR_067225270I → V in a patient with chronic myelomonocytic leukemia. 1 Publication1
Natural variantiVAR_014493497Q → H. Corresponds to variant dbSNP:rs6530Ensembl.1
Natural variantiVAR_046527581T → A. Corresponds to variant dbSNP:rs34922269EnsemblClinVar.1
Natural variantiVAR_020313726T → K1 PublicationCorresponds to variant dbSNP:rs2230018Ensembl.1
Natural variantiVAR_067226834E → D in a patient with chronic myelomonocytic leukemia. 1 Publication1
Natural variantiVAR_067227922R → K in a patient with chronic myelomonocytic leukemia. 1 Publication1
Natural variantiVAR_0358711106L → R in a colorectal cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF000992 mRNA Translation: AAC51839.1
AF000993 mRNA Translation: AAC51840.1
AC136488 Genomic DNA No translation available.
AL133545 Genomic DNA No translation available.
AL138744 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59368.1
BC093868 mRNA Translation: AAH93868.1
BC113381 mRNA Translation: AAI13382.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14265.1

Protein sequence database of the Protein Information Resource

More...PIRi		T02255

NCBI Reference Sequences

More...RefSeqi		NP_066963.2, NM_021140.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000377967; ENSP00000367203; ENSG00000147050

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7403

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7403

UCSC genome browser

More...UCSCi		uc004dge.5, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000992 mRNA Translation: AAC51839.1
AF000993 mRNA Translation: AAC51840.1
AC136488 Genomic DNA No translation available.
AL133545 Genomic DNA No translation available.
AL138744 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59368.1
BC093868 mRNA Translation: AAH93868.1
BC113381 mRNA Translation: AAI13382.1
CCDSiCCDS14265.1
PIRiT02255
RefSeqiNP_066963.2, NM_021140.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3AVRX-ray1.80A880-1401[»]
3AVSX-ray1.85A880-1401[»]
6FUKX-ray2.00A877-1401[»]
6FULX-ray1.65A877-1401[»]
SMRiO15550
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113246, 62 interactors
CORUMiO15550
DIPiDIP-46192N
IntActiO15550, 22 interactors
MINTiO15550
STRINGi9606.ENSP00000367203

Chemistry databases

BindingDBiO15550
ChEMBLiCHEMBL2069164
GuidetoPHARMACOLOGYi2684

PTM databases

iPTMnetiO15550
PhosphoSitePlusiO15550

Genetic variation databases

BioMutaiKDM6A

Proteomic databases

EPDiO15550
jPOSTiO15550
MassIVEiO15550
MaxQBiO15550
PaxDbiO15550
PeptideAtlasiO15550
PRIDEiO15550
ProteomicsDBi48752

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		639, 193 antibodies

Genome annotation databases

EnsembliENST00000377967; ENSP00000367203; ENSG00000147050
GeneIDi7403
KEGGihsa:7403
UCSCiuc004dge.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7403
DisGeNETi7403

GeneCards: human genes, protein and diseases

More...GeneCardsi		KDM6A
GeneReviewsiKDM6A
HGNCiHGNC:12637, KDM6A
HPAiENSG00000147050, Low tissue specificity
MalaCardsiKDM6A
MIMi300128, gene
300867, phenotype
neXtProtiNX_O15550
OpenTargetsiENSG00000147050
Orphaneti2322, Kabuki syndrome
PharmGKBiPA37262
VEuPathDBiHostDB:ENSG00000147050.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1124, Eukaryota
KOG1246, Eukaryota
GeneTreeiENSGT00940000155202
InParanoidiO15550
OrthoDBi268901at2759
PhylomeDBiO15550
TreeFamiTF317405

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000147050-MONOMER
PathwayCommonsiO15550
ReactomeiR-HSA-3214842, HDMs demethylate histones
R-HSA-5617472, Activation of anterior HOX genes in hindbrain development during early embryogenesis
SIGNORiO15550

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7403, 13 hits in 503 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KDM6A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		UTX_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7403
PharosiO15550, Tchem

Protein Ontology

More...PROi		PR:O15550
RNActiO15550, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147050, Expressed in kidney and 235 other tissues
ExpressionAtlasiO15550, baseline and differential
GenevisibleiO15550, HS

Family and domain databases

Gene3Di1.25.40.10, 2 hits
IDEALiIID00431
InterProiView protein in InterPro
IPR003347, JmjC_dom
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PfamiView protein in Pfam
PF02373, JmjC, 1 hit
PF13181, TPR_8, 1 hit
SMARTiView protein in SMART
SM00558, JmjC, 1 hit
SM00028, TPR, 6 hits
SUPFAMiSSF48452, SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS51184, JMJC, 1 hit
PS50005, TPR, 7 hits
PS50293, TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKDM6A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15550
Secondary accession number(s): Q52LL9, Q5JVQ7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 23, 2008
Last modified: February 10, 2021
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. Human entries with genetic variants
    List of human entries with genetic variants
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